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GM2 gangliosidosis, AB variant

ORPHA:309246 · Disease · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(13)

  • Abnormal fear-induced behaviorHP:0100852
  • Abnormal pyramidal signHP:0007256
  • Axial hypotoniaHP:0008936
  • Cerebral atrophyHP:0002059
  • Cognitive impairmentHP:0100543
  • Developmental regressionHP:0002376
  • DystoniaHP:0001332
  • Exaggerated startle responseHP:0002267
  • HyperacusisHP:0010780
  • HyperreflexiaHP:0001347
  • NeurodegenerationHP:0002180
  • Progressive spastic quadriplegiaHP:0002478
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Abnormal involuntary eye movementsHP:0012547
  • AnxietyHP:0000739
  • Cherry red spot of the maculaHP:0010729
  • ChoreaHP:0002072
  • Glabellar reflexHP:0030904
  • Inappropriate behaviorHP:0000719
  • Loss of speechHP:0002371
  • Postnatal growth retardationHP:0008897
  • Primitive reflexHP:0002476
  • SeizureHP:0001250

Occasional (29-5%)(2)

  • Pseudobulbar signsHP:0002200
  • Punctate periventricular T2 hyperintense fociHP:0030081